Canonical Allele Identifier: CA369196576
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2949291
ClinVar RCV Id: RCV003802017
MyVariant Identifiers: chr7:g.128484868T>C (hg19) chr7:g.128844814T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128844814T>C , CM000669.2:g.128844814T>C GRCh38
NC_000007.13:g.128484868T>C , CM000669.1:g.128484868T>C GRCh37
NC_000007.12:g.128272104T>C NCBI36
NG_011807.1:g.19386T>C , LRG_870:g.19386T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.3349T>C MANE Select ENSP00000327145.8:p.Cys1117Arg
ENST00000325888.12:c.3349T>C ENSP00000327145.8:p.Cys1117Arg
ENST00000346177.6:c.3349T>C ENSP00000344002.6:p.Cys1117Arg
NM_001127487.1:c.3349T>C NP_001120959.1:p.Cys1117Arg
NM_001458.4:c.3349T>C , LRG_870t1:c.3349T>C NP_001449.3:p.Cys1117Arg
NM_001127487.2:c.3349T>C NP_001120959.1:p.Cys1117Arg
NM_001458.5:c.3349T>C MANE Select NP_001449.3:p.Cys1117Arg
Search 100 bp 5'
Search 100 bp 3'